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Cited by 85Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

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Wilson, Heather L, Crolla, John A, Walker, Dena, Artifoni, Lina, Dallapiccola, Bruno, Takano, Takako, Vasudevan, Pradeep, Huang, Shuwen +4 more·2008·European Journal of Human Genetics
DOI 10.1038/ejhg.2008.107
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Abstract

The severe mental retardation and speech deficits associated with 22q13 terminal deletions have been attributed in large part to haploinsufficiency of SHANK3, which maps to all 22q13 terminal deletions, although more proximal genes are assumed to have minor effects. We report two children with interstitial deletions of 22q13 and two copies of SHANK3, but clinical features similar to the terminal 22q13 deletion syndrome, including mental retardation and severe speech delay. Both these interstitial deletions are completely contained within the largest terminal deletion, but do not overlap with the nine smallest terminal deletions. These interstitial deletions indicate that haploinsufficiency for 22q13 genes other than SHANK3 can have major effects on cognitive and language development. However, the relatively mild speech problems and normal cognitive abilities of a parent who transmitted her identical interstitial deletion to her more severely affected son suggests that the phenotype associated with this region may be more variable than terminal deletions and therefore contribute to the relative lack of correlation between clinical severity and size of terminal deletions. The phenotypic similarity between the interstitial deletions and non-overlapping small terminal 22q13 deletions emphasizes the general nonspecificity of the clinical picture of the 22q13 deletion syndrome and the importance of molecular analysis for diagnosis.

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Crossref · 10.1038/ejhg.2008.107

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  • Deletions of SHANK3 have been reported in all PMS cases except one report of two children with deletions proximal to SHANK3.

    “deletions of SHANK3 have been reported in all cases except in one report of two children who have deletions proximal to SHANK3 (Wilson et al., 2008)”

    From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Wilson et al., 2008

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Authors
Wilson, H. L., Crolla, J. A., Walker, D., Artifoni, L., Dallapiccola, B., Takano, T., Vasudevan, P., Huang, S., Maloney, V., Yobb, T., Quarrell, O., & McDermid, H. E.
Affiliations
  • University of Alberta (CA)
  • Salisbury District Hospital (GB)
  • Sheffield Children's Hospital (GB)
  • University of Padua (IT)
  • Sapienza University of Rome (IT)
  • Tokyo Kasei University (JP)
Corresponding author
McDermid, Heather E
ORCID
Venue
European Journal of Human Genetics
Publisher
Springer Science and Business Media LLC
Published
2008-06-04
Volume
16
Issue
11
Pages
1301-1310
ISSN
  • 1018-4813 (ISSN-L)
  • 1476-5438
DOI
10.1038/ejhg.2008.107
OpenAlex
W1975966955
Cited by
85
References
23
Citations by year
2026: 3 · 2025: 2 · 2024: 1 · 2023: 5 · 2022: 6 · 2021: 7 · 2020: 4 · 2019: 4 · 2018: 3 · 2017: 5 · 2016: 5 · 2015: 4 · 2014: 3 · 2013: 6 · 2012: 9
FWCI
3.42
Type
journal article
Language
en
Open access
Licence
Locations
  • European Journal of Human Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • ePrints Soton (University of Southampton) (submittedVersion)
  • INFM-OAR (INFN Catania) (submittedVersion, other-oa)
Funders
  • Teikyo University School of Medicine
  • Canadian Institutes of Health Research
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Keywords
22q13 deletion syndrome, SHANK3, haploinsufficiency, intellectual disability, speech delay, language development, cognitive development, genotype-phenotype correlation, clinical heterogeneity, molecular diagnosis
MeSH terms
Carrier Proteins, Child, Chromosomes, Human, Pair 22, Humans, Infant, Language Development Disorders, Male, Intellectual Disability, Nerve Tissue Proteins, Syndrome, Gene Deletion

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